DAX-1 expression in human adrenocortical neoplasms: implications for steroidogenesis

M Reincke, F Beuschlein, E Lalli, W Arlt, S Vay, P Sassone-Corsi, B Allolio

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42 Citations (Scopus)


The DAX-1 gene encodes an orphan nuclear hormone receptor essential for normal fetal development of the adrenal cortex. Recently, DAX-1 has been shown to act as a transcriptional repressor of steroidogenic acute regulatory protein gene expression (StAR), suppressing steroidogenesis. We, therefore, investigated the expression of DAX-1 in a variety of adrenocortical tumors and compared the results with StAR mRNA expression. We found low or absent DAX-1 expression in aldosterone-producing adenomas (n = 11: 35 +/- 11%; normal adrenals: 100 +/- 17%) and in aldosterone-producing adrenocortical carcinomas (n = 2: 24 and 36%). Cortisol-producing adenomas showed intermediate DAX-1 expression (n = 8; 92 +/- 16), as did 3 non-aldosterone-producing carcinomas (72, 132 and 132%). High DAX-1 expression was present in nonfunctional adenomas (n = 3; 160 +/- 17%). In contrast to DAX-1, StAR mRNA expression did not show significant variations between groups. We did not detect the expected negative correlation between DAX-1 and StAR in adrenocortical tumors. These data suggest that high DAX-1 expression in adrenocortical tumors is associated with a non-functional phenotype whereas low DAX-1 expression favors mineralocorticoid secretion. These effects on steroidogenesis are mediated by mechanisms other than repression of StAR gene expression. Our results indicate that DAX-1 may be one of the factors influencing the steroid biosynthesis of adrenocortical neoplasms.

Original languageEnglish
Pages (from-to)2597-600
Number of pages4
JournalThe Journal of clinical endocrinology and metabolism
Issue number7
Publication statusPublished - Jul 1998


  • Adolescent
  • Adrenal Cortex Hormones
  • Adrenal Cortex Neoplasms
  • Adrenocortical Adenoma
  • Adrenocortical Carcinoma
  • Adult
  • Aged
  • Analysis of Variance
  • Case-Control Studies
  • Child
  • Child, Preschool
  • DAX-1 Orphan Nuclear Receptor
  • DNA-Binding Proteins
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Receptors, Retinoic Acid
  • Repressor Proteins
  • Steroids
  • Transcription Factors


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